Canonical Allele Identifier: CA352174984

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936349T>A (hg19) ; chr3:g.38894858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894858T>A , CM000665.2:g.38894858T>A	GRCh38
NC_000003.11:g.38936349T>A , CM000665.1:g.38936349T>A	GRCh37
NC_000003.10:g.38911353T>A	NCBI36
NG_033859.1:g.60704A>T
NG_033859.2:g.162129A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2510A>T MANE Select	ENSP00000307599.3:p.Asp837Val
ENST00000668754.1:c.2510A>T	ENSP00000499569.1:p.Asp837Val
ENST00000675223.1:c.2510A>T	ENSP00000502481.1:p.Asp837Val
ENST00000675672.1:c.2510A>T	ENSP00000502446.1:p.Asp837Val
ENST00000675892.1:c.2330A>T	ENSP00000502318.1:p.Asp777Val
ENST00000676045.1:c.2554A>T	ENSP00000501685.1:n.2554A>T
ENST00000676176.1:c.2129A>T	ENSP00000501891.1:p.Asp710Val
ENST00000302328.7:c.2510A>T	ENSP00000307599.3:p.Asp837Val
ENST00000444237.2:c.2510A>T	ENSP00000408028.2:p.Asp837Val
ENST00000456224.7:c.2510A>T	ENSP00000416757.3:p.Asp837Val
NM_001287223.1:c.2510A>T	NP_001274152.1:p.Asp837Val
NM_014139.2:c.2510A>T	NP_054858.2:p.Asp837Val
XM_011533320.1:c.2510A>T	XP_011531622.1:p.Asp837Val
XM_011533321.1:c.1847A>T	XP_011531623.1:p.Asp616Val
XM_011533322.1:c.1058A>T	XP_011531624.1:p.Asp353Val
NM_001349253.1:c.2510A>T	NP_001336182.1:p.Asp837Val
XM_011533321.2:c.1847A>T	XP_011531623.1:p.Asp616Val
XM_017005647.1:c.2885A>T	XP_016861136.1:p.Asp962Val
XM_017005648.1:c.2312A>T	XP_016861137.1:p.Asp771Val
XM_017005650.1:c.2510A>T	XP_016861139.1:p.Asp837Val
XM_017005651.1:c.2237A>T	XP_016861140.1:p.Asp746Val
XM_017005652.1:c.2510A>T	XP_016861141.1:p.Asp837Val
XM_017005653.1:c.914A>T	XP_016861142.1:p.Asp305Val
NM_001349253.2:c.2510A>T MANE Select	NP_001336182.1:p.Asp837Val
NM_014139.3:c.2510A>T	NP_054858.2:p.Asp837Val